Varaico: Literature-Extracted Genetic Variants

Gene:PARP12
Variant:p.Y299H

PARP12

34 papers

Pfam Domains

WHD_PARP12aa 2–68UCSCPARP12 winged helix domain
zf-CCCH_PARP12aa 73–123UCSCPARP12-like CCCH zinc finger tandem
zf-CCCH_PARP12aa 166–206UCSCPARP12-like CCCH zinc finger tandem
WWE_4aa 299–360UCSCWWE domain
WWEaa 377–458UCSCWWE domain
PARPaa 507–679UCSCPoly(ADP-ribose) polymerase catalytic domain

Gene Aliases

HGNC Name

poly(ADP-ribose) polymerase family member 12

HGNC Previous Symbol

ZC3HDC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022750.4
p.Y299H
c.895T>C
Surrounding Variants
1 paper
NM_022750.4
p.V293I
c.877G>A
1 paper
NM_022750.4
p.L317R
c.950T>G
1 paper
NM_022750.4
p.I327L
c.979A>T
1 paper
NM_022750.4
p.I327L
c.979A>C
1 paper
NM_022750.4
p.L344P
c.1031T>C
1 paper
NM_022750.4
p.L359V
c.1075C>G
1 paper
NM_022750.4
p.S364C
c.1091C>G
1 paper
NM_022750.4
p.E254Splc
c.761-8C>T
1 paper
NM_022750.4
p.A425D
c.1274C>A
1 paper
NM_022750.4
p.K433N
c.1299G>T
1 paper
NM_022750.4
p.K433N
c.1299G>C
1 paper
NM_022750.4
p.S216C
c.646A>T
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